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52 active trials for Down Syndrome

GnRH Therapy on Cognition in Down Syndrome

Down syndrome (DS) is the most common chromosomal disorder; with the increasing life expectancy, about 80% of DS adults reach age 65 years old. Early Alzheimer's disease (AD) is the most common cause of death within this population. DS individuals already show AD neuropathology by the age of 30, while it becomes clinically recognized in their late forties. DS subjects also exhibit olfaction defects in adulthood. To date, there is no treatment available for the cognitive or olfactory defects in DS. The development of an effective treatment targeting cognitive dysfunction in DS adolescents/adults would be warranted. GnRH, a decapeptide secreted by hypothalamic neurons is the pilot light of reproduction in all mammals. Pulsatile GnRH acts on the gonadotrophs via the GnRH receptor (GNRHR) in the pituitary gland to stimulate LH and FSH, which themselves will act on the gonads to produce gametes and steroids. However, GNRHR are also expressed in cerebral cortex, hippocampus, amygdala, habenula, olfactory structures, and adrenal gland, suggesting that GnRH may have a role beyond reproduction. Recently, GnRH has been shown to be involved in the process of ageing and lifespan control. Notably, in murine models, GnRH acts as an anti-ageing factor, independent of sex hormones. While ageing is characterized by hypothalamic inflammation and diminished neurogenesis, particularly in the hypothalamus and the hippocampus, GnRH was able to promote adult neurogenesis. The regulation of GnRH secretion is complex and involves hormonal, neuronal input, and environmental factors. Prévot et al. recently explored cognition within the Ts65Dn model and showed an age-dependent loss of the ability to recognize new objects. Also, these mice exhibit defects in olfaction. Given the role of GnRH in anti-aging mice model, pulsatile GnRH or continuous GnRH infusion (leading to desensitization of the GNRHR) were given to the Ts65Dn mice for two weeks. Amazingly, pulsatile but not continuous GnRH therapy was able to recover cognitive and olfaction defects.

Start: August 2020

The Effect of Spontaneous Hand Gestures on Stuttering in Children With Down Syndrome

This study wants to determine the relationship between spontaneous hand gestures, stuttering and intelligibility in individuals with Down syndrome. One third of these individuals has fluency problems, such as stuttering. Gesture use appears to be a strength in individuals with Down syndrome. While they are able to compensate for their language problems, it is not clear if they also use gestures to compensate for their speech problems. Therefore, this study will observe the impact of their gesture use on the stuttering frequency/severity and on the intelligibility of children with Down syndrome. This study has three research questions. The first question is: Is there a difference in gesture use between individuals with Down syndrome who stutter and individuals with Down syndrome who do not stutter? The hypothesis is that the children who stutter will make more gestures to compensate for the fluency problems. The kind of spontaneous hand gestures will also be considered. These results will be compared to those of typical developing individuals. The second research question is: Are stuttering events that are accompanied by a gesture more intelligible than stuttering moments that are not accompanied by a gesture? Research showed that the use of signs has an positive impact on the speech intelligibility of individuals with Down syndrome. Here it is investigated if this is also true for spontaneous hand gestures. In case of better speech intelligibility it is investigated if the gain in intelligibility is caused by how recognizable the gesture is or by the effect of the gestures on speech itself. The effect of different types on the speech intelligibility of the stuttering events will also be investigated. Typically developing individuals who stutter will function as control group. The third research question is: 'Does gestural priming have an influence on the fluency of children with Down syndrome? Gestural priming is a secondary speech signal that gives feedback to the first speech signal by simultaneously mimicking the first speech signal. In this research a hand puppet will imitate the mouth movements of the participants. Next to that, the speech will be simultaneously be accompanied by beat gestures, meaningless up and downward movements. The hypothesis is that due to mirror neurons, the participants will become more fluent. Mirror neurons are neurons in the brain that can produce a neural basis for fluency by the perception of the second speech signal.

Start: December 2018

Using Personal Mobile Technology to Identify Obstructive Sleep Apnea in Children With Down Syndrome (UPLOAD)

This study aims to see if mobile video clips (smartphone recordings) can be used to screen children with Down syndrome to identify those at highest risk of obstructive sleep apnea (OSA), so they can be prioritized for an earlier sleep study. Parents will be asked to record short video clips of their child sleeping, and then rate whether they think their child has OSA. Later, children will undergo a sleep study to compare to the ratings.

Start: September 2019

Application of LLM Care and Related Affective Computing Systems on Persons With Special Needs

Down syndrome (DS) is a genetic disorder characterized by specific physical characteristics (muscle degeneration) and cognitive phenotype (neurodegeneration caused by gene-overexpression that has affected memory, language, and other executive functions). DS is the most prevalent reason for intellectual impairment but is also often accompanied by other medical conditions such as Alzheimer's disease. Given the increased cognitive decline inherent to DS, especially in the later years, the development of a non-invasive intervention protocol to counterbalance this prevalence is imperative. This study is an adaptation of the Long Lasting Memories (LLM) (NCT02267499) and the subsequent LLM Care (NCT02313935) projects, specifically tailored to meet the needs and capacity of people with DS. The study aims to examine the effectiveness and any potential benefits of cognitive and physical training, as offered via the ICT-based (non-pharmacological) intervention of LLM Care, on people with DS. It is worth investigating whether this intervention can aid the development of independent living skills in DS individuals and the possibility of counterbalancing the degeneration, both physical and cognitive, caused by the expression of the extra genes. To evaluate any physical, cognitive, behavioral, and neuroplastic benefits/effects and measure the influence (affective status of participant) of the training, the study utilizes psycho-somatometric assessments and neuroscientific (electroencephalographic, EEG-related) indices, as well as affective computing systems.

Start: February 2017

Strategies for Teaching Verbs

This study is designed to evaluate whether children with Down syndrome and children with typical development exhibit different levels of accuracy demonstrating novel verbs taught under three conditions: semantic cues (perform action), syntactic cues (sentence frame), and combined (syntactic and semantic cues). The participants complete an eligibility evaluation and then one verb learning session (approximately 60 minutes in length). During that verb learning session they are taught sets of words under each condition (i.e., within-subjects design) and then asked to identify and label those target words immediately after instruction.

Start: March 2018

A Study of ACI-24 in Adults With Down Syndrome

This study is a prospective multicenter, placebo-controlled, double-blind, randomized study to assess the effect of one dose ACI-24 versus placebo over a 74-week treatment period and 26-week safety follow-up period.

Start: October 2020

Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Start: May 2011

QoL and Stress in Parents of Children With Developmental Disabilities and Chronic Disease

The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder, cerebral palsy) and parents of children chronic diseases (diabetes mellitus type 1, epilepsy, asthma) compared to parents of healthy children. The investigators will analyze the level of stress, quality of life, self-esteem, optimism, resilience, happiness, stigmatization, depression, anxiety, sleep quality, parenting challenges and some physiological indicators of the stress such as level of cortisol and heart rate variability. Also, the investigators will measure Advanced Glycation End products (AGEs) in the skin. The investigators assume that parents of children with developmental disabilities and chronic diseases have higher level of stress and lower quality of life compared to the parents of healthy children.

Start: April 2018

Clinical Validation of the Bordeaux Maze Test

Currently, the instruments used in translational studies related to cognition have proved to be inaccurate. For this reason, the objective of this study is to evaluate whether the Bordeaux Maze Test has adequate psychometric properties and is valid for its use to compare trials tested in preclinical (animal) studies and clinical population with Down syndrome. Specifically, it is intended to study the domains of memory (relational memory) and executive functions (work memory), both relevant in the cognitive functioning of the population with Down syndrome.

Start: April 2019

Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome

Recently, retrospective studies have shown that Down Syndrome children have a higher CO2 (carbone dioxide) sleep pressure than the general pediatric population. This increase does not seem to be always related to sleep apnea. The Investigators wish to confirm these results prospectively. The investigators hypothesize that this alveolar hypoventilation may be due to ventilatory control disorders caused by dysautonomia, but also to a decrease in the strength of the respiratory muscles within the framework of the global muscular hypotonia described in children with Down syndrome. .

Start: October 2019

Early Detection and Treatment of Respiratory Sleep Disorders in Children With Down Syndrome

Interventional, comparative, open label, single-center study to demonstrate that an early (from 6 months of age) and systematic (every 6 months) screening of Obstructive Sleep Apnea (OSA) by polysomnography (PSG) in children with Down Syndrome during the first 3 years of life is associated with an improved neurocognitive development at the age of 3 years.

Start: July 2017

Protocol for a Non-randomized Survey in Down Syndrome People Who Practice Sports. Self and Observers´ Perception.

This survey arises from one objective of a PhD thesis whose purpose is to "Identify what social skills people with Down syndrome have that do a routine activity and compare them with those developed by those SD people who perform sports activities."

Start: September 2019